Evidence for somatic and germline mosaicism in CRASH syndrome.
Vits
L
L
Department of Medical Genetics, University of Antwerp, Belgium.
Chitayat
D
D
Van Camp
G
G
Holden
J J
JJ
Fransen
E
E
Willems
P J
PJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D019943:Amino Acid Substitution; D001120:Arginine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D018095:Germ-Line Mutation; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011392:Proline; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics; D013933:Thumb / Q000002:abnormalities; D014960:X Chromosome / Q000235:genetics
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules; D004247:DNA; D001120:Arginine; D011392:Proline